Sugiura Kenta, Kubo Toru, Ochi Yuri, Baba Yuichi, Hirota Takayoshi, Yamasaki Naohito, Kitaoka Hiroaki
Department of Cardiology and Geriatrics, Kochi Medical School, Kochi University, Kochi, Japan.
Mol Genet Metab Rep. 2020 Oct 20;25:100662. doi: 10.1016/j.ymgmr.2020.100662. eCollection 2020 Dec.
Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive disease caused by a deficiency of the lysosomal enzyme α-L-iduronidase. Cardiac manifestations such as valvular heart disease are associated with poor prognosis. There have been only a few reports on the effect of long-term enzyme replacement therapy (ERT) for adult patients with the attenuated form of MPS I (Scheie syndrome) and cardiac involvement.
We retrospectively reviewed four adult patients of Scheie syndrome for which ERT was performed in our hospital. We investigated the findings of electrocardiography and echocardiography for the four patients performed before and 10 years after the initiation of ERT to evaluate the efficacy for ERT in Scheie syndrome.
The ages of the patients at the initiation of ERT ranged from 26 to 46 years. The mean follow-up period was 129 months (121 to 134 months). Two patients underwent valve replacement surgery before the initiation of ERT. One patient had gradual progressive aortic valve stenosis and mitral valve stenosis during the course of ERT, and double valve replacement was finally performed. The patient who had started ERT at the youngest age did not develop significant cardiovascular disease. Regarding clinical courses with ERT for a period of 10 years, all four patients survived and they showed relatively stable cardiac conditions although two patients developed sick sinus syndrome after the valvular surgery.
Valvular disease in patients with Scheie syndrome occur at a young age. In a limited number of the four patients, ERT might contribute the stability of cardiac condition.
I型黏多糖贮积症（MPS I）是一种罕见的常染色体隐性疾病，由溶酶体酶α-L-艾杜糖醛酸酶缺乏引起。心脏表现如瓣膜性心脏病与预后不良相关。关于长期酶替代疗法（ERT）对成年期MPS I轻症型（Scheie综合征）合并心脏受累患者的疗效，仅有少数报道。
我们回顾性分析了在我院接受ERT治疗的4例Scheie综合征成年患者。我们调查了这4例患者在ERT开始前及开始后10年的心电图和超声心动图检查结果，以评估ERT对Scheie综合征的疗效。
ERT开始时患者年龄在26至46岁之间。平均随访期为129个月（121至134个月）。2例患者在ERT开始前接受了瓣膜置换手术。1例患者在ERT过程中出现渐进性主动脉瓣狭窄和二尖瓣狭窄，最终进行了双瓣膜置换。开始ERT年龄最小的患者未发生明显心血管疾病。关于ERT治疗10年的临床病程，所有4例患者均存活，尽管2例患者在瓣膜手术后出现病态窦房结综合征，但他们的心脏状况相对稳定。
Scheie综合征患者的瓣膜疾病发病年龄较轻。在这4例有限的患者中，ERT可能有助于心脏状况的稳定。
